Differentiation shifts from a reversible to an irreversible heterochromatin state at the DM1 locus

Autor: Tayma Handal, Sarah Juster, Manar Abu Diab, Shira Yanovsky-Dagan, Fouad Zahdeh, Uria Aviel, Roni Sarel-Gallily, Shir Michael, Ester Bnaya, Shulamit Sebban, Yosef Buganim, Yotam Drier, Vincent Mouly, Stefan Kubicek, Walther J. A. A. van den Broek, Derick G. Wansink, Silvina Epsztejn-Litman, Rachel Eiges

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-13 (2024)

Abstract Epigenetic defects caused by hereditary or de novo mutations are implicated in various human diseases. It remains uncertain whether correcting the underlying mutation can reverse these defects in patient cells. Here we show by the analysis o

Externí odkaz: https://doaj.org/article/f2f26f7be8be43019350e3bc09541979

Marked Differences in C9orf72 Methylation Status and Isoform Expression between C9/ALS Human Embryonic and Induced Pluripotent Stem Cells

Autor: Yaara Cohen-Hadad, Gheona Altarescu, Talia Eldar-Geva, Ephrat Levi-Lahad, Ming Zhang, Ekaterina Rogaeva, Marc Gotkine, Osnat Bartok, Reut Ashwal-Fluss, Sebastian Kadener, Silvina Epsztejn-Litman, Rachel Eiges

Publikováno v: Stem Cell Reports, Vol 7, Iss 5, Pp 927-940 (2016)

We established two human embryonic stem cell (hESC) lines with a GGGGCC expansion in the C9orf72 gene (C9), and compared them with haploidentical and unrelated C9 induced pluripotent stem cells (iPSCs). We found a marked difference in C9 methylation

Externí odkaz: https://doaj.org/article/9f14e07fd920475989781574b056d061

FMR1 Epigenetic Silencing Commonly Occurs in Undifferentiated Fragile X-Affected Embryonic Stem Cells

Autor: Michal Avitzour, Hagar Mor-Shaked, Shira Yanovsky-Dagan, Shira Aharoni, Gheona Altarescu, Paul Renbaum, Talia Eldar-Geva, Oshrat Schonberger, Ephrat Levy-Lahad, Silvina Epsztejn-Litman, Rachel Eiges

Publikováno v: Stem Cell Reports, Vol 3, Iss 5, Pp 699-706 (2014)

Fragile X syndrome (FXS) is the most common heritable form of cognitive impairment. It results from epigenetic silencing of the X-linked FMR1 gene by a CGG expansion in its 5′-untranslated region. Taking advantage of a large set of FXS-affected hum

Externí odkaz: https://doaj.org/article/84318ba0cb7e4d1589dd771a8dc09b08

DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients

Autor: Pauline Megalli, Talia Eldar-Geva, Rachel Eiges, Silvina Epsztejn-Litman, Gheona Altarescu, Oshrat Schonberger, Shira Yanovsky-Dagan, Eliora Cohen

Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, In press, ⟨10.1038/s41431-021-00999-3⟩
European Journal of Human Genetics, Nature Publishing Group, In press, ⟨10.1038/s41431-021-00999-3⟩

Myotonic dystrophy type 1 (DM1) is an autosomal dominant muscular dystrophy that results from a CTG expansion (50–4000 copies) in the 3′ UTR of the DMPK gene. The disease is classified into four or five somewhat overlapping forms, which incomplet

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bb160efea570c578bcea79982c7d05d
https://doi.org/10.1038/s41431-021-00999-3

Pluripotency-Independent Induction of Human Trophoblast Stem Cells from Fibroblasts

Autor: Shulamit Sebban, Debra Goldman-Wohl, Moriyah Naama, Hazar Yassen, Kirill Makedonski, Ofra Sabag, Noy Deri, Michal Novoselsky-Persky, Howard Cedar, Mohammad Jaber, Simcha Yagel, Ahmed Radwan, Rachel Eiges, Rachel Lasry, Moran Rahamim, Valery Zayat, Yosef Buganim, Dana Orzech, Silvina Epsztejn-Litman, Areej Khatib

SUMMARYRecent studies demonstrated that human trophoblast stem-like cells (hTS-like cells) can be derived from naïve embryonic stem cells or be induced from somatic cells by the pluripotency factors, OSKM. This raises two main questions; (i) whether

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a7896abe4a56d473be9ab26f5c4ea885
https://doi.org/10.1101/2021.11.10.468044